Table 2

BRCA2 sequence variants

Case no.VariantAge (years)Eth*Family history†
FBMBO
*Eth., ethnicity; A J, Ashkenazi Jewish; C, non-Jewish white; AA, African American; H, Hispanic; A, Asian. †Number of first, second, or third degree relatives with female breast (FB), male breast (MB), or ovarian (O) cancers.
Deleterious mutations
506174delT70J000
1486174delT54J000
2086174delT41J000
3079132delC45W200
3836174delT45J210
4616174delT41J301
Variants of uncertain significance
43D1420Y/10323delCins1170W000
912166C→T53W100
111IVS9–90A→G48W000
116S1172L58W000
149D1420Y61W200
219I2944F71AA100
24610338G→A61W300
267T3013I48W200
307K2950N45W200
331IVS15–114delAGT79J000
386I2944F45H000
475I2944F58AA000
48210338G→A67W000
516IVS24–16T→C38A000
517V3091S30W000